Muscular dystrophy is a muscular disorder that causes muscle wasting and weakness. Congenital muscular dystrophies are inherited dystrophies that are usually discovered at birth or by the age of 2. There are many types of muscular dystrophies with a range of symptoms and progression. Ullrich congenital muscular dystrophy is one type.
Cause
Ullrich congenital muscular dystrophy is a type of muscular dystrophy that affects about one in one million people. UCMD is an inherited disease that is autosomal recessive. This means that both parents carry the disease; however, they do not have the disease themselves. Parents who carry UCMD have a 25 percent risk in each pregnancy of passing this disease on to their child.
Genes
There are three genes that are affected by UCMD. The three genes that are mutated by this disease are responsible for making a component of protein called type IV collagen. Type IV collagen plays an important role in muscles, especially skeletal muscle, which is the muscle used for movement.
Onset and Symptoms
The first signs of UCMD occur in babies. Babies with UCMD usually have low muscle tone or floppiness and have reduced movement. Other symptoms of UCMD include hip dislocation, stiff neck, and tightness in the hips, knees and elbows. Some children with UCMD develop respiratory weakness and may need to use a ventilator to help them breathe at night. Many people with UCMD are unable to walk without assistance.
Treatments
There are currently no cures for any muscular dystrophies, but some therapies may be used to treat the symptoms of the disorders. Potassium is a mineral essential for muscle contraction, and a deficiency in potassium causes muscle weakness and cramps. Potassium may be proposed as a treatment for UCMD; however, there is currently insufficient evidence to suggest that potassium plays any role in this disease, including treatment of the disease or its symptoms.
